Linked Data
ClinVar Variation Id:
366004
ClinVar RCV Id:
RCV000371414
dbSNP Id:
rs773281152
ExAC:
9:140646793 A / C
gnomAD v2:
9-140646793-A-C
gnomAD v3:
9-137752341-A-C
gnomAD v4:
9-137752341-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137752341A>C , CM000671.2:g.137752341A>C | GRCh38 |
| NC_000009.11:g.140646793A>C , CM000671.1:g.140646793A>C | GRCh37 |
| NC_000009.10:g.139766614A>C | NCBI36 |
| NG_011776.1:g.138350A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1181A>C MANE Select | ENSP00000417980.1:p.Glu394Ala | |
| ENST00000629335.2:c.1181A>C | ENSP00000490056.1:p.Glu394Ala | |
| ENST00000636027.1:c.1067A>C | ENSP00000489961.1:p.Glu356Ala | |
| ENST00000637161.1:c.1088A>C | ENSP00000490328.1:p.Glu363Ala | |
| ENST00000637261.1:c.1221A>C | ENSP00000490815.1:n.1221A>C | |
| ENST00000637977.1:c.1126A>C | ||
| ENST00000638071.1:c.876-1830A>C | ||
| ENST00000640639.1:c.350A>C | ENSP00000491823.1:p.Glu117Ala | |
| ENST00000371394.6:c.*916A>C | ENSP00000485945.1:n.*916A>C | |
| ENST00000460843.5:c.1181A>C | ENSP00000417980.1:p.Glu394Ala | |
| ENST00000462484.5:c.1181A>C | ENSP00000417328.1:p.Glu394Ala | |
| ENST00000462942.3:c.38A>C | ENSP00000436107.1:p.Glu13Ala | |
| ENST00000495657.5:n.531A>C | ||
| ENST00000626066.2:c.1084A>C | ||
| ENST00000629808.2:c.342-1830A>C | ||
| NM_001145527.1:c.1181A>C | NP_001138999.1:p.Glu394Ala | |
| NM_024757.4:c.1181A>C | NP_079033.4:p.Glu394Ala | |
| XM_005266105.3:c.1172A>C | XP_005266162.1:p.Glu391Ala | |
| XM_005266110.1:c.1088A>C | XP_005266167.1:p.Glu363Ala | |
| XM_006717288.2:c.1163A>C | XP_006717351.1:p.Glu388Ala | |
| XM_011519021.1:c.1190A>C | XP_011517323.1:p.Glu397Ala | |
| XM_011519022.1:c.1187A>C | XP_011517324.1:p.Glu396Ala | |
| XM_011519023.1:c.1169A>C | XP_011517325.1:p.Glu390Ala | |
| XM_011519024.1:c.1180-1830A>C | XP_011517326.1:n.1180-1830A>C | |
| XM_011519025.1:c.1088A>C | XP_011517327.1:p.Glu363Ala | |
| XM_011519026.1:c.1190A>C | XP_011517328.1:p.Glu397Ala | |
| XM_011519027.1:c.1190A>C | XP_011517329.1:p.Glu397Ala | |
| XM_011519028.1:c.1190A>C | XP_011517330.1:p.Glu397Ala | |
| XM_011519033.1:c.1169A>C | XP_011517335.1:p.Glu390Ala | |
| NM_001354259.1:c.1088A>C | NP_001341188.1:p.Glu363Ala | |
| NM_001354263.1:c.1160A>C | NP_001341192.1:p.Glu387Ala | |
| NM_001354611.1:c.1181A>C | NP_001341540.1:p.Glu394Ala | |
| NM_001354612.1:c.1088A>C | NP_001341541.1:p.Glu363Ala | |
| XM_005266105.5:c.1172A>C | XP_005266162.1:p.Glu391Ala | |
| XM_011519021.3:c.1190A>C | XP_011517323.1:p.Glu397Ala | |
| XM_011519022.3:c.1187A>C | XP_011517324.1:p.Glu396Ala | |
| XM_011519023.3:c.1169A>C | XP_011517325.1:p.Glu390Ala | |
| XM_017015134.1:c.1166A>C | XP_016870623.1:p.Glu389Ala | |
| XM_017015136.2:c.1150-1830A>C | XP_016870625.1:n.1150-1830A>C | |
| XM_017015137.1:c.1067A>C | XP_016870626.1:p.Glu356Ala | |
| XM_017015138.1:c.1067A>C | XP_016870627.1:p.Glu356Ala | |
| XM_024447674.1:c.1078-1830A>C | XP_024303442.1:n.1078-1830A>C | |
| XM_024447675.1:c.1088A>C | XP_024303443.1:p.Glu363Ala | |
| XM_024447676.1:c.305A>C | XP_024303444.1:p.Glu102Ala | |
| XM_024447677.1:c.305A>C | XP_024303445.1:p.Glu102Ala | |
| XM_024447678.1:c.1088A>C | XP_024303446.1:p.Glu363Ala | |
| XM_024447679.1:c.1088A>C | XP_024303447.1:p.Glu363Ala | |
| XM_024447680.1:c.1067A>C | XP_024303448.1:p.Glu356Ala | |
| NM_024757.5:c.1181A>C MANE Select | NP_079033.4:p.Glu394Ala | |
| NM_001145527.2:c.1181A>C | NP_001138999.1:p.Glu394Ala | |
| NM_001354259.2:c.1088A>C | NP_001341188.1:p.Glu363Ala | |
| NM_001354263.2:c.1160A>C | NP_001341192.1:p.Glu387Ala | |
| NM_001354611.2:c.1181A>C | NP_001341540.1:p.Glu394Ala | |
| NM_001354612.2:c.1088A>C | NP_001341541.1:p.Glu363Ala |